Hematologically important mutations: leukocyte adhesion deficiency (first update). - Wikidata - awgldk - TriplyDB

Hematologically important mutations: leukocyte adhesion deficiency (first update).

Hematologically important mutations: leukocyte adhesion deficiency (first update).

http://www.wikidata.org/entity/Q35963681

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Human CalDAG-GEFI gene (RASGRP2) mutation affects platelet function and causes severe bleeding Neutrophils: Between host defence, immune modulation, and tissue injury Multiple Phenotypic Changes Define Neutrophil Priming Direct interaction of kindlin-3 with integrin αIIbβ3 in platelets is required for supporting arterial thrombosis in mice.Opposite role of Kindlin-1 and Kindlin-2 in lung cancers.Integrin αDβ2 (CD11d/CD18) is expressed by human circulating and tissue myeloid leukocytes and mediates inflammatory signaling.Negative feedback regulation of Wnt signaling via N-linked fucosylation in zebrafish.Role of siglecs and related glycan-binding proteins in immune responses and immunoregulation Leucocyte adhesion deficiency type 1 with developmental delay secondary to CMV infection and filiation questions.Maintaining intestinal health: the genetics and immunology of very early onset inflammatory bowel disease.Lessons from rare maladies: leukocyte adhesion deficiency syndromes.Leukocyte recruitment in inflammation: basic concepts and new mechanistic insights based on new models and microscopic imaging technologies.Defects of leukocyte migration in primary immunodeficiencies.Changing world of neutrophils.Neutrophil integrin affinity regulation in adhesion, migration, and bacterial clearance.ICON: the early diagnosis of congenital immunodeficiencies.Leukocyte adhesion deficiency III - when integrins activation fails.Common dermatologic manifestations of primary immune deficiencies.Highlighting the problematic reliance on CD18 for diagnosing leukocyte adhesion deficiency type 1.The kindlin 3 pleckstrin homology domain has an essential role in lymphocyte function-associated antigen 1 (LFA-1) integrin-mediated B cell adhesion and migration The role of monogenic disease in children with very early onset inflammatory bowel disease.Validation of Alternative Transcript Splicing in Chicken Lines that Differ in Genetic Resistance to Marek's Disease.Feline leukocyte adhesion (CD18) deficiency caused by a deletion in the integrin β2 (ITGB2) gene.Leukocyte Adhesion Deficiency-I: Clinical and Molecular Characterization in an Indian Population.An Alternative Phosphorylation Switch in Integrin β2 (CD18) Tail for Dok1 Binding Leukocyte adhesion deficiency-I with a novel intronic mutation presenting with pyoderma gangrenosum- like lesions.Successful adjunctive immunoglobulin treatment in patients affected by leukocyte adhesion deficiency type 1 (LAD-1).Novel automated tracking analysis of particles subjected to shear flow: kindlin-3 role in B cells.Achyrocline satureioides (Lam.) D.C. Hydroalcoholic Extract Inhibits Neutrophil Functions Related to Innate Host Defense.Comprehensive report of primary immunodeficiency disorders from a tertiary care center in India.Brief report: reduced expression of CD18 leads to the in vivo expansion of hematopoietic stem cells in mouse bone marrow.The Systemic Lupus Erythematosus-Associated Single Nucleotide Polymorphism rs1143678 in Integrin αM Cytoplasmic Tail Generates a 14-3-3ζ Binding Site That Is Proinflammatory.Evaluating a CLL susceptibility variant in ITGB2 in families with multiple subtypes of hematological malignancies.Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation in FERMT3.[Role of Fucosylation in Cancer].

P2860

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P2860

Hematologically important mutations: leukocyte adhesion deficiency (first update).

http://www.wikidata.org/entity/Q35963681

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2011 nî lūn-bûn

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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2011年论文

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2011年论文

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name

Hematologically important mutations: leukocyte adhesion deficiency (first update).

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Hematologically important mutations: leukocyte adhesion deficiency (first update).

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type

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Hematologically important mutations: leukocyte adhesion deficiency (first update).

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Hematologically important mutations: leukocyte adhesion deficiency (first update).

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prefLabel

Hematologically important mutations: leukocyte adhesion deficiency (first update).

@ast

Hematologically important mutations: leukocyte adhesion deficiency (first update).

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P356

J.BCMD.2011.10.004

P1433

Blood Cells, Molecules and Diseases

P1476

Hematologically important mutations: leukocyte adhesion deficiency (first update).

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P2093

Anne Maddalena

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Bernd H Belohradsky

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Dirk Roos

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Edith van de Vijver

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Ekrem Unal

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F Ilhan Tezcan

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Karin van Leeuwen

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Klaus Schwartz

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M Yavuz Köker

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Manisha Madkaikar

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P2860

Distinct mutations in two patients with leukocyte adhesion deficiency and their functional correlates

A point mutation in KINDLIN3 ablates activation of three integrin subfamilies in humans

Leukocyte adhesion deficiency-III is caused by mutations in KINDLIN3 affecting integrin activation.

The integrin co-activator Kindlin-3 is expressed and functional in a non-hematopoietic cell, the endothelial cell.

Two Novel Frame Shift, Recurrent and De Novo Mutations in the ITGB2 (CD18) Gene Causing Leukocyte Adhesion Deficiency in a Highly Inbred North African Population.

Integrins: versatility, modulation, and signaling in cell adhesion

Primary immunodeficiency mutation databases

Hematologically important mutations: leukocyte adhesion deficiency

Nucleotide-sugar transporters: structure, function and roles in vivo

A novel leukocyte adhesion deficiency III variant: kindlin-3 deficiency results in integrin- and nonintegrin-related defects in different steps of leukocyte adhesion

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53-61

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1

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48

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Taco W Kuijpers

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2011-11-30T00:00:00Z

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51846441

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4539347

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